Mutational Spectrum of the C1 Inhibitor Gene in a Cohort of Italian Patients with Hereditary Angioedema: Description of Nine Novel Mutations

2014 ◽  
Vol 78 (2) ◽  
pp. 73-82 ◽  
Author(s):  
Valeria Bafunno ◽  
Maria Bova ◽  
Stefania Loffredo ◽  
Chiara Divella ◽  
Angelica Petraroli ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Novel Mutations ◽  
Mutational Spectrum ◽  
Inhibitor Gene

scholarly journals Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema

2002 ◽  
Vol 19 (4) ◽  
pp. 461-461 ◽  
Author(s):  
Tomáš Freiberger ◽  
Lenka Kolárová ◽  
Pavel Mejstrík ◽  
Martina Vyskocilová ◽  
Pavel Kuklínek ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Type I ◽  
C1 Inhibitor ◽  
Novel Mutations ◽  
Inhibitor Gene

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Allergy ◽  
2011 ◽  
Vol 66 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
M. F. Ferraro ◽  
A. S. Moreno ◽  
E. C. Castelli ◽  
E. A. Donadi ◽  
M. S. Palma ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Single Nucleotide ◽  
Single Nucleotide Deletion ◽  
Nucleotide Deletion ◽  
Inhibitor Gene

Hereditary Angioedema: a New Mutation of the C1 Inhibitor Gene in a Brazilian Family

2008 ◽  
Vol 121 (2) ◽  
pp. S101-S101
Author(s):  
M FERRARO ◽  
W SARTI ◽  
A SOUZA ◽  
E DONADI ◽  
E CASTELLI ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
New Mutation ◽  
Inhibitor Gene

Splicing variants in C1 inhibitor gene: Quantitative study in hereditary angioedema patients

2008 ◽  
Vol 45 (16) ◽  
pp. 4133
Author(s):  
Rocio Mena de la Cruz ◽  
Alberto Lopez-Lera ◽  
Sofia Garrido-Herrero ◽  
Gumersindo Fontan ◽  
Margarita Lopez-Trascasa
Keyword(s):  
Quantitative Study ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Splicing Variants ◽  
Inhibitor Gene

scholarly journals A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type I Hereditary Angioedema

2004 ◽  
Vol 43 (3) ◽  
pp. 253-255 ◽  
Author(s):  
Yoshiki SEKIJIMA ◽  
Takao HASHIMOTO ◽  
Yasuhiro KAWACHI ◽  
Hiroshi KOSHIHARA ◽  
Fujio OTSUKA ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Angioedema ◽  
Splice Site Mutation ◽  
Type I ◽  
C1 Inhibitor ◽  
Site Mutation ◽  
Inhibitor Gene

Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates

2008 ◽  
Vol 45 (13) ◽  
pp. 3536-3544 ◽  
Author(s):  
Emanuela Pappalardo ◽  
Sonia Caccia ◽  
Chiara Suffritti ◽  
Attila Tordai ◽  
Lorenza Chiara Zingale ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Mutation Screening ◽  
C1 Inhibitor ◽  
Inhibitor Gene

scholarly journals Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

PLoS ONE ◽  
2015 ◽  
Vol 10 (11) ◽  
pp. e0142174 ◽  
Author(s):  
Slađana Andrejević ◽  
Peter Korošec ◽  
Mira Šilar ◽  
Mitja Košnik ◽  
Radovan Mijanović ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Novel Mutations ◽  
C1 Inhibitor Deficiency
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